Wu C, Wang M, Wang X et al (2023) The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. Brain 146(6):2364–2376
Article PubMed PubMed Central Google Scholar
Bergner CG, Breur M, Soto-Bernardini MC et al (2024) Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy. Brain 147(10):3562–3572
Zeng YH, Zuo DD, Wang ZQ, Zhu J (2024) Cerebellar Ataxia Secondary to Leukodystrophy with a Frameshift CST3 Variant. Mov disorders: official J Mov Disorder Soc 39(10):1894–1896
Zhang Y, Wu ZY (2024) Chinese patients with adult onset leukodystrophy caused by CST3 variants. J Genet genomics = Yi chuan xue bao 51(7):778–780
Orimo K, Matsukawa T, Shiomi K et al (2025) Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3. J Neurol Sci 478:123708
Article PubMed CAS Google Scholar
Baille G, Morel H, Schröder C et al (2024) End-truncated CST3 causes severe psychiatric-like symptoms associated with migraine and progressive young-onset dementia. J Neurol 271(11):7316–7320
Zhong S, Fei B, Liang J et al (2025) Spatial and Temporal Distribution of White Matter Lesions in NOTCH2NLC-Related Neuronal Intranuclear Inclusion Disease. Neurology 104(4):e213360
Article PubMed CAS Google Scholar
Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet medicine: official J Am Coll Med Genet 17(5):405–424
Sone J, Kitagawa N, Sugawara E et al (2014) Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. J Neurol Neurosurg Psychiatry 85(3):354–356
Ishiura H, Shibata S, Yoshimura J et al (2019) Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet 51(8):1222–1232
Article PubMed CAS Google Scholar
Chen S, Zou JL, He S, Li W, Zhang JW, Li SJ (2022) Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families. Neurol sciences: official J Italian Neurol Soc Italian Soc Clin Neurophysiol 43(8):1–9
Zhong S, Liu J, Lian Y, Zhou B, Wang X, Ding J (2024) Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report. BMC Neurol 24(1):154
Article PubMed PubMed Central Google Scholar
Yokoi S, Yasui K, Hasegawa Y et al (2016) Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. Clin Neuropathol 35(6):375–380
Tai H, Wang A, Zhang Y et al (2023) Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease. Neurol Genet 9(2):e200057
Article PubMed PubMed Central Google Scholar
Liang J, Zhong S, Lian Y et al (2026) Episodic encephalopathy in NOTCH2NLC-related neuronal intranuclear inclusion disease: Clinical spectrum and a proposed classification framework. J Neurol Sci 480:125706
Article PubMed CAS Google Scholar
YagitaK, Kanazawa K, Sano T et al (2025) Bizarre astrocytes with cytoplasmic/intranuclear inclusions in an individual with alternating hemiplegia, migraine, and brain swelling associated with a GGC repeat expansion in NOTCH2NLC. Clin Neuropathol 46:17–25. https://doi.org/10.5414/NP301709
Orihara A, Miyakoshi N, Sunami Y et al (2023) Acute Reversible Encephalopathy with Neuronal Intranuclear Inclusion Disease Diagnosed by a Brain Biopsy: Inferring the Mechanism of Encephalopathy from Radiological and Histological Findings. Intern Med (Tokyo Japan) 62(12):1821–1825
Sone J, Hishikawa N, Koike H, Hattori N, Hirayama M (2005) Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic. Neurology 65(10):1538–1543
Article PubMed CAS Google Scholar
Melberg A, Hallberg L, Kalimo H, Raininko R (2006) MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 27(4):904–911
PubMed PubMed Central CAS Google Scholar
Wade C, Lynch DS (2024) Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. Handb Clin Neurol 204:263–271
Singh P, Kaur R (2016) Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy. J Pediatr neurosciences 11(2):131–133
Lynch DS, Wade C, Paiva ARB et al (2019) Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry 90(5):543–554
Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) Cadasil. Lancet Neurol 8(7):643–653
Caroppo P, Le Ber I, Camuzat A et al (2014) Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin. JAMA Neurol 71(12):1562–1566
Sutovský S, Petrovic R, Chandoga J, Turcáni P (2007) Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. J Neurol Sci 263(1–2):149–153
Bianchin MM, Martin KC, de Souza AC, de Oliveira MA, Rieder CR (2010) Nasu-Hakola disease and primary microglial dysfunction. Nat Rev Neurol 6(9):2 p following 523
Hol EM, Dykstra W, Chevalier J et al (2025) Neuroglia in leukodystrophies. Handb Clin Neurol 210:159–175
Comments (0)